No abstract available.
Arthritis, Rheumatoid* ; Humans ; NF-kappa B

Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused by unusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling and immune system regulation. Heterozygotes for gain-of-function (GOF) alleles of the STAT1 gene usually display autosomal dominant chronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis. Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the STAT1 gene. The 24-year-old female presented with recurrent respiratory bacterial and nontuberculous mycobacterial infections complicated by severe bronchiectasis and CMC. Whole-exome sequencing revealed a c.800C>T (p.Ala267Val) heterozygous mutation in the STAT1 gene. Further analysis by Sanger sequencing of STAT1 from the patient and her parents revealed the patient had a de novo occurrence of the variant. This is the first report of a Korean patient with a GOF pathogenic variant in STAT1. Physicians should be aware of the existence of this variant as a genetic factor associated with CMC and bronchiectasis complicated by recurrent infection.
Alleles ; Bronchi ; Bronchiectasis* ; Candidiasis, Chronic Mucocutaneous ; Chronic Disease ; Female ; Heterozygote ; Humans ; Immune System ; Inflammation ; Korea* ; Nontuberculous Mycobacteria ; Parents ; Respiratory Tract Infections* ; STAT1 Transcription Factor ; Young Adult

BACKGROUND: Prevalence of thyroid cancer has been increasing rapidly worldwide, especially among women. There has been a debate as to whether such an increase represents consequences of over-diagnosis or a true increase. To find the occupational risk of Korean female workers in different industry sectors, we analyzed the data of Korean female workers. METHODS: National Female Worker Cohort data that contain information on total female workers were used for our analysis of prevalence of thyroid cancer (C73 according to KCD-5, 6 code) derived from National Health Insurance data. By combining industrial codes from National Health Insurance Service and those from Korea Workers’ Compensation and Welfare Service, the classification of industrial codes became to consist of the total of thirty three representing both non-office (NO) and office (O) categories. Both an internal comparison among female workers within the cohort and an external comparison to compare female workers with Korean general female population were carried out. RESULTS: Among 149,258 female workers, 2,641 cases of thyroid cancers were identified. Differences in prevalence of thyroid cancer between female workers (40.5%) and general Korean female population (32.6%) were observed; however, the differences in prevalence of thyroid cancer between NO workers and O workers were not apparent. An analysis involving workers in Financial and insurance activities sector revealed that, standardized prevalence rate (SPR) of both NO (2.96, 95% CI = 2.01–4.20) and O workers (3.68, 95% CI = 3.10–4.33) increased significantly and that an AOR (adjusted odds ratio) increased marginally (1.38, 95% CI = 0.97–1.96). Further, when stratified in respect to the duration of employment, an AOR of female workers having been employed for more than 8 years showed a significant increase (1.63, 95% CI = 1.07–2.49). CONCLUSIONS: Female workers had a higher risk of thyroid cancer than general female population but the difference between NO workers and O workers was not found to be significant in most industrial sectors. Further studies using data with information regarding specific occupational exposures are needed. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s40557-018-0259-3) contains supplementary material, which is available to authorized users.
Classification ; Cohort Studies ; Compensation and Redress ; Employment ; Female ; Humans ; Insurance ; Korea ; National Health Programs ; Occupational Exposure ; Prevalence ; Thyroid Gland ; Thyroid Neoplasms ; Women, Working